Results 151 to 160 of about 121,613 (384)

Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening

Developmental Medicine & Child Neurology, 2022
T. Dangouloff, M. Hiligsmann, N. Deconinck, A. D’Amico, A. Seferian, F. Boemer, L. Servais   +6 more
semanticscholar   +1 more source

Combination of Serum Neurofilament Light Chain and Serum Cardiac Troponin T as Biomarkers Improves Diagnostic Accuracy in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective We aimed to evaluate the clinical utility of serum neurofilament light chain (sNfL) and cardiac troponin T (cTnT) in amyotrophic lateral sclerosis (ALS) and assess whether their combination improves diagnostic accuracy. Methods We retrospectively analyzed 293 ALS patients, 85 neurodegenerative disease controls, and 29 healthy controls.
Paula Lindenborn, Rachel Fabian, Torsten Grehl, Huelya Nazlican, Thomas Meyer, Sarah Bernsen, Patrick Weydt   +6 more
wiley   +1 more source

Spinal Muscular Atrophy Therapeutics in India: Parental Hopes and Despair! [PDF]

, 2021
Renu Suthar, Amol Patil
openalex   +1 more source

Anatomical Associations Between Focal Mitochondrial Metabolism and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a very specific neuroimaging signature, but the molecular underpinnings of the strikingly selective anatomic involvement have not elucidated to date. Accordingly, a large neuroimaging study was conducted with 258 participants to evaluate associations between patterns of neurodegeneration and focal ...
Marlene Tahedl, We Fong Siah, Efstratios Karavasilis, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Foteini Christidi, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Persistent Pseudomonas aeruginosa infection associated with non-invasive ventilation in a child with spinal muscular atrophy type 1 [PDF]

, 2020
Archana Chacko, Peter D. Sly, T. Kidd, Leanne Gauld   +3 more
openalex   +1 more source

Onasemnogene Abeparvovec: A Review in Spinal Muscular Atrophy

CNS Drugs, 2022
Hannah A. Blair
semanticscholar   +1 more source

The Epidemiology of Primary Lateral Sclerosis: Results from a Population‐Based Cohort

Annals of Neurology, EarlyView.
Objective In this population‐based study, we described the epidemiology of primary lateral sclerosis (PLS) in northern Italy and compared the clinical characteristics of patients with PLS to those with predominant upper motor neuron (PUMN) involvement and classic amyotrophic lateral sclerosis (ALS).
Rosario Vasta, Enrico Matteoni, Giorgio Pellegrino, Antonio Canosa, Umberto Manera, Francesca Palumbo, Maurizio Grassano, Sara Cabras, Alessandra Maccabeo, Fabrizio D'Ovidio, Gabriele Mora, Salvatore Gallone, Elisa D'Angelo, Letizia Mazzini, Fabiola De Marchi, Cristina Moglia, Adriano Chiò, Andrea Calvo   +17 more
wiley   +1 more source

Bioimaging of sense organs and the central nervous system in extant fishes and reptiles in situ: A review

The Anatomical Record, EarlyView.
Bioimaging of the sense organs and brain of fishes and reptiles. Left panel: 3D reconstruction of the head and brain of the deep‐sea viperfish Chauliodus sloani following diceCT. Right panel: A 3D reconstruction of a 70‐day‐old embryo head of the bearded dragon Pogona vitticeps following diceCT, showing the position of the segmented brain within the ...
Shaun P. Collin, Kara E. Yopak, Jenna M. Crowe‐Riddell, Victoria Camilieri‐Asch, Caroline C. Kerr, Hope Robins, Myoung Hoon Ha, Annalise Ceddia, Travis L. Dutka, Lucille Chapuis   +9 more
wiley   +1 more source

Identification and characterization of a spinal muscular atrophy-determining gene

Cell, 1995
S. Lefebvre, L. Bürglen, S. Reboullet, O. Clermont, P. Burlet, L. Viollet, B. Bénichou, C. Cruaud, P. Millasseau, M. Zeviani, D. Paslier, J. Frézal, D. Cohen, J. Weissenbach, A. Munnich, J. Melki   +15 more
semanticscholar   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source